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Utah's History of Genetic Innovation: In the Beginning

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Utah's History of Genetic Innovation: In the Beginning

Jul 06, 2015

For over fifty years, University of Utah has been a leader in human genetics, a field that is making precision medicine possible today. Ray Gesteland, Ph.D., professor emeritus in human genetics, 描述了犹他大学的人才和资源的完美风暴,这些人才和资源促使人们发现了囊性纤维化背后的遗传原因, colon cancer, and many more. In a second interview, Gesteland谈到了Alta会议和其他导致限制性片段长度多态性(RFLP)发现的事件。, a tool that made mapping the human genome possible.

Episode Transcript

Interviewer: 犹他州基因组计划的历史一瞥,下一期节目.

Announcer: 检查最新的研究,告诉你最新的突破, the Science and Research Show is on The Scope.

Interviewer: I'm talking with Dr. 犹他大学人类遗传学名誉教授Ray Gesteland说. Emeritus. I guess that means you've been around a while.

Dr. Gesteland: I've been around a long time.

Interviewer: When did you start at the University of Utah?

Dr. Gesteland: I came here in 1978.

Interviewer: 我想是什么把你从东海岸带到犹他州来的,对吧?

Dr. Gesteland: So I had been at Cold Spring Harbor Laboratory, 研究了11年的遗传学和分子生物学. Jim Watson was the director of that institution. 我作为助理导演和他一起工作,对犹他州知之甚少.

And then two things happened that made my ears perk up. 其中一位是马里奥·卡佩基(Mario Capecchi),多年前我还是研究生时曾与他共事. 决定搬去犹他,他要离开哈佛去犹他. 所以这告诉我一定发生了什么特别的事情,因为我非常尊重他. 约翰·罗斯在我冷泉港的实验室待了一年, a very smart geneticist from Berkeley, and he was moving to Utah. 我说:“如果这两个人要去犹他,那一定有什么不寻常的事情发生."

后来我有机会来到大发娱乐找工作,我对这份工作一见钟情. 住在阿尔塔旅馆,看着春天的高盗贼是很难拒绝的. 但当我看到大发娱乐的遗传资源时,这真的是一个遗传学的机会.

Interviewer: And what were those resources?

Dr. Gesteland: Well, it was mostly people, 犹他大学的很多人都有做长期项目的想法,这在其他地方很难做到, where quick return is expected. And there was the Mormon genealogical database, which I really didn't know much about, 但是意识到这一点对于理解人类基因的未来很重要.

但我认为真正吸引我的是这个地方的风格. That the guy down the hall is a colleague, not a competitor, and he's someone you can do things with, collaborate with, made it very appealing.

Interviewer: And what was it like then?

Dr. Gesteland: 大发娱乐已经有了遗传学方面的研究可以追溯到一些早期的创始人. George Cartwright, Frank Tyler, Max Wintrobe, Eldon Gardner, 谁早在这些技术出现之前就看到了追求遗传学的机会, partly because of the unique resources here in Utah.

In fact, 这是国家研究院有史以来大发娱乐提供的第一笔研究经费, the only one at the beginning in 1945, 来到犹他州的弗兰克·泰勒研究一个患有肌肉疾病的家庭. He had assembled a huge family with many, many members, some of who had the disease, some of who didn't. 他从国家卫生研究院得到了30万美元的资助,开始研究这个家庭. So that goes back to 1945.

Interviewer: Yeah, that's amazing.

Dr. Gesteland: 1974年马克·斯科尔尼克来了,我想他开始将家谱数据库电脑化. 这是由美国国立卫生研究院为癌症研究大发娱乐提供的计划资助开始的. 大发娱乐的想法是,如果大发娱乐能在计算机数据库中获得家谱记录, 大发娱乐可以开始寻找和集合那些对研究了解他们的基因很有用的家族.

Interviewer: 这就是今天所谓的犹他州人口数据库.

Dr. Gesteland: And then it built from there. 当人类遗传学系成立时,我和雷·怀特是最初的领导者. That is building on a base that was already here.

Interviewer: 我想,这一切的真正根源是犹他州大发娱乐独特的人口. 事实上,他们对自己的祖先有详细的记录,并且有一个大家庭.

Dr. Gesteland: Yeah. So I think it's more than that. The population has a real innate interest in genetics. 他们感兴趣的是他们的遗产,他们的家庭,并保持跟踪. Plus, they're very willing to be involved in studies. 你去一个可能患有某种疾病的家庭,让他们参与这项研究, 95% of the people will sign up and say, "Terrific. Here's 10 little liters of blood. Let's see what you can do.“这与该国其他地方非常不同.

但是,就在最近几年,这个大型数据库的价值被赋予了更大的意义. 大发娱乐希望通过观察大量患有不同疾病的人, you could find all the genes that cause disease. 事实证明,这一切并不那么简单,因为许多基因与大多数疾病有关. So if you would take some common disease, say, high blood pressure, you can find a thousand different genes, 每一种都对高血压的易感性有一定的影响.

Well it turns out, 扫描整个人群寻找这些基因并找出它是行不通的. 有效的方法是识别家族,并对来自一个家族的五到六个人的基因组进行测序, some of whom have the disease, some of them don't. 这样你就能找到这个家族中涉及的特定基因,然后再扩展到其他家族. 因此,家庭结构现在变得至关重要, 为了下一阶段寻找与人类疾病易感性相关的基因.

Interviewer: 这就是今天的精准医疗计划.

Dr. Gesteland: 精准医疗,个性化医疗,不管你怎么称呼它,但它就在大发娱乐. 还有很长的路要走,但这将是一段有趣的旅程.

Announcer: 有趣,内容丰富,而且都是为了更好的健康. This is The Scope Health Sciences Radio.